The DOI matches its Crossref record; 129 of the 130 references it cites were found in a registry or an index.
Smith–Magenis syndrome
Open accessAbstract
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2. Diagnostic strategies include molecular identification of a 17p11.2 microdeletion encompassing RAI1 or a mutation in RAI1. G-banding and fluorescent in situ hybridization (FISH) are the classical methods used to detect the SMS deletions, while multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR are the newer, cost-effective, and high-throughput technologies. Most SMS features are due to RAI1 haploinsufficiency, while the variability and severity of the disorder are modified by other genes in the 17p11.2 region. The functional role for RAI1 is not completely understood, but it is likely involved in transcription, based on homology and preliminary studies. Management of SMS is primarily a multidisciplinary approach and involves treatment for sleep disturbance, speech and occupational therapies, minor medical interventions, and management of behaviors.
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“Thus, therapies targeting the reversal of melatonin rhythms in patients with SMS may improve sleep, as well as behaviour, attention and learning137–139.”
From Rhythms of life: circadian disruption and brain disorders across the lifespan (2019) · cites this paper as [139]
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Cites
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Interstitial deletion of (17)(p11.2p11.2) in nine patients
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Research works printed but not linked: 1
- Smith AC, Dykens E, Greenberg F : Sleep disturbance in Smith–Magenis syndrome (del 17 p11.2). Am J Med Genet 1998; 81: 186–191. · DOI
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Self-citationInternational Consensus Statement on Obstructive Sleep Apnea
Chang, J. L., Goldberg, A. N., Alt, J. A., Mohammed, A., Ashbrook, L., Auckley, D., Ayappa, I., Bakhtiar, H., Barrera, J. E., Bartley, B. L., et al. (2023) · International Forum of Allergy & Rhinology · doi:10.1002/alr.23079 · Cited by 350
Metadata
- Authors
- Elsea, S. H., & Girirajan, S.
- Affiliations
- Virginia Commonwealth University (US)
- Corresponding author
- Elsea, Sarah H
- Venue
- European Journal of Human Genetics
- Published
- 2008-01-30
- Volume
- 16
- Issue
- 4
- Pages
- 412-421
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- OpenAlex
- W2116514710
- Cited by
- 241
- References
- 130
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 14 · 2023: 5 · 2022: 12 · 2021: 10 · 2020: 10 · 2019: 8 · 2018: 12 · 2017: 17 · 2016: 14 · 2015: 17 · 2014: 14 · 2013: 17 · 2012: 17
- FWCI
- 1.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Virginia Commonwealth University
- National Institutes of Health (NIH-R01)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD38534, R01HD038534)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- Smith-Magenis syndrome, RAI1 gene, haploinsufficiency, chromosome 17p11.2, microdeletion, neurobehavioral disorders, diagnostic testing, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, real-time quantitative PCR, sleep disorders, multidisciplinary management
- MeSH terms
- Abnormalities, Multiple, Chromosomes, Human, Pair 17, Humans, Intellectual Disability, Syndrome, Transcription Factors, Trans-Activators, Craniofacial Abnormalities
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